Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.V309_L310ins1
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RDH5

NM_002905.5:p.V309_L310ins1

Associated Papers

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration.

Tsunoda K et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."